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Items: 1 to 20 of 113

1.
Glycyl-tRNA Synthetase (GARS) Expression Is Associated with Prostate Cancer Progression and Its Inhibition Decreases Migration, and Invasion In Vitro
Ealia Khosh Kish, Yaser Gamallat, Muhammad Choudhry, Sunita Ghosh, Sima Seyedi, Tarek A. Bismar
Int J Mol Sci. 2023 Mar; 24(5): 4260. Published online 2023 Feb 21. doi: 10.3390/ijms24054260
PMCID:
PMC10001614
ArticlePDF–6.9M
2.
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
Alayne P. Meyer, Megan E. Forrest, Stefan Nicolau, Wojciech Wiszniewski, Mary Pat Bland, Chang-Yong Tsao, Anthony Antonellis, Nicolas J. Abreu
Hum Mutat. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Hum Mutat. 2022 Jul; 43(7): 869–876. Published online 2022 Apr 21. doi: 10.1002/humu.24372
PMCID:
PMC9247498
ArticlePDF–674K
3.
Charcot–Marie–Tooth mutation in glycyl-tRNA synthetase stalls ribosomes in a pre-accommodation state and activates integrated stress response
Samantha Mendonsa, Nicolai von Kuegelgen, Lucija Bujanic, Marina Chekulaeva
Nucleic Acids Res. 2021 Sep 27; 49(17): 10007–10017. Published online 2021 Aug 17. doi: 10.1093/nar/gkab730
PMCID:
PMC8464049
ArticlePDF–2.0M
4.
Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase
Ekaterina S. Vinogradova, Oleg S. Nikonov, Ekaterina Yu. Nikonova
Biochemistry (Mosc) 2021; 86(Suppl 1): S12–S23. Published online 2021 Feb 25. doi: 10.1134/S0006297921140029
PMCID:
PMC7905983
ArticlePDF–876K
5.
A novel mutation in the GARS gene in a Malian family with Charcot‐Marie‐Tooth disease
Abdoulaye Yalcouyé, Seybou H. Diallo, Thomas Coulibaly, Lassana Cissé, Salimata Diallo, Oumar Samassékou, Salimata Diarra, Dramane Coulibaly, Mohamed Keita, Cheick O. Guinto, Kenneth Fischbeck, Guida Landouré, The H3Africa Consortium
Mol Genet Genomic Med. 2019 Jul; 7(7): e00782. Published online 2019 Jun 7. doi: 10.1002/mgg3.782
PMCID:
PMC6625146
ArticlePDF–388K
6.
Elaborate uORF/IRES features control expression and localization of human glycyl-tRNA synthetase
Jana Alexandrova, Caroline Paulus, Joëlle Rudinger-Thirion, Fabrice Jossinet, Magali Frugier
RNA Biol. 2015 Dec; 12(12): 1301–1313. Published online 2015 Sep 1. doi: 10.1080/15476286.2015.1086866
PMCID:
PMC4829322
ArticlePDF–1.0M
7.
Large Conformational Changes of Insertion 3 in Human Glycyl-tRNA Synthetase (hGlyRS) during Catalysis
Xiangyu Deng, Xiangjing Qin, Lei Chen, Qian Jia, Yonghui Zhang, Zhiyong Zhang, Dongsheng Lei, Gang Ren, Zhihong Zhou, Zhong Wang, Qing Li, Wei Xie
J Biol Chem. 2016 Mar 11; 291(11): 5740–5752. Published online 2016 Jan 21. doi: 10.1074/jbc.M115.679126
PMCID:
PMC4786711
ArticlePDF–4.3M
8.
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease
Yi-Chu Liao, Yo-Tsen Liu, Pei-Chien Tsai, Chia-Ching Chang, Yen-Hua Huang, Bing-Wen Soong, Yi-Chung Lee
PLoS One. 2015; 10(8): e0133423. Published online 2015 Aug 5. doi: 10.1371/journal.pone.0133423
PMCID:
PMC4526224
ArticlePDF–1.9M
9.
Cocrystal Structures of Glycyl-tRNA Synthetase in Complex with tRNA Suggest Multiple Conformational States in Glycylation
Xiangjing Qin, Zhitai Hao, Qingnan Tian, Zhemin Zhang, Chun Zhou, Wei Xie
J Biol Chem. 2014 Jul 18; 289(29): 20359–20369. Published online 2014 Jun 4. doi: 10.1074/jbc.M114.557249
PMCID:
PMC4106348
ArticlePDF–2.3M
10.
Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama Disease
Sergiu C. Blumen, Vivian E. Drory, Menachem Sadeh, Baruch El-Ad, Uri Soimu, Galina B. Groozman, Jean-Pierre Bouchard, Lev G. Goldfarb
Amyotroph Lateral Scler. Author manuscript; available in PMC 2011 Jan 1.
Published in final edited form as: Amyotroph Lateral Scler. 2010; 11(1-2): 237–239. doi: 10.1080/17482960902849823
PMCID:
PMC2864347
ArticlePDF–253K
11.
Crystallization and preliminary X-ray analysis of a native human tRNA synthetase whose allelic variants are associated with Charcot–Marie–Tooth disease
Wei Xie, Paul Schimmel, Xiang-Lei Yang
Acta Crystallogr Sect F Struct Biol Cryst Commun. 2006 Dec 1; 62(Pt 12): 1243–1246. Published online 2006 Nov 30. doi: 10.1107/S1744309106046434
PMCID:
PMC2225372
ArticlePDF–250K
12.
Glycyl tRNA Synthetase Mutations in Charcot-Marie-Tooth Disease Type 2D and Distal Spinal Muscular Atrophy Type V
Anthony Antonellis, Rachel E. Ellsworth, Nyamkhishig Sambuughin, Imke Puls, Annette Abel, Shih-Queen Lee-Lin, Albena Jordanova, Ivo Kremensky, Kyproula Christodoulou, Lefkos T. Middleton, Kumaraswamy Sivakumar, Victor Ionasescu, Benoit Funalot, Jeffery M. Vance, Lev G. Goldfarb, Kenneth H. Fischbeck, Eric D. Green
Am J Hum Genet. 2003 May; 72(5): 1293–1299. Published online 2003 Apr 10. doi: 10.1086/375039
PMCID:
PMC1180282
ArticlePDF–760K
13.
Cloning, sequencing and bacterial expression of human glycine tRNA synthetase.
J Williams, S Osvath, T F Khong, M Pearse, D Power
Nucleic Acids Res. 1995 Apr 25; 23(8): 1307–1310. doi: 10.1093/nar/23.8.1307
PMCID:
PMC306854
SummaryPage BrowsePDF–799K
14.
Operational RNA code for amino acids: species-specific aminoacylation of minihelices switched by a single nucleotide.
D Hipps, K Shiba, B Henderson, P Schimmel
Proc Natl Acad Sci U S A. 1995 Jun 6; 92(12): 5550–5552. doi: 10.1073/pnas.92.12.5550
PMCID:
PMC41733
SummaryPage BrowsePDF–643K
15.
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment
Rebecca Markovitz, Rajarshi Ghosh, Molly E. Kuo, William Hong, Jaehyung Lim, Saunder Bernes, Stephanie Manberg, Kathleen Crosby, Pranoot Tanpaiboon, Diana Bharucha-Goebel, Carsten Bonnemann, Carrie A. Mohila, Elizabeth Mizerik, Suzanne Woodbury, Weimin Bi, Timothy Lotze, Anthony Antonellis, Rui Xiao, Lorraine Potocki
Am J Med Genet A. Author manuscript; available in PMC 2021 Jul 22.
Published in final edited form as: Am J Med Genet A. 2020 May; 182(5): 1167–1176. Published online 2020 Mar 17. doi: 10.1002/ajmg.a.61544
PMCID:
PMC8297662
ArticlePDF–949K
16.
Functional Analyses of Glycyl-tRNA Synthetase Mutations Suggest a Key Role for tRNA-Charging Enzymes in Peripheral Axons
Anthony Antonellis, Shih-Queen Lee-Lin, Amy Wasterlain, Paul Leo, Martha Quezado, Lev G. Goldfarb, Kyungjae Myung, Shawn Burgess, Kenneth H. Fischbeck, Eric D. Green
J Neurosci. 2006 Oct 11; 26(41): 10397–10406. doi: 10.1523/JNEUROSCI.1671-06.2006
PMCID:
PMC6674701
ArticlePDF–471K
17.
Compound Heterozygosity for Loss-of-Function GARS Variants Results in a Multi-System Developmental Syndrome that Includes Severe Growth Retardation
Stephanie N. Oprescu, Xenia Chepa-Lotrea, Ryuichi Takase, Gretchen Golas, Thomas C. Markello, David R. Adams, Camilo Toro, Andrea L. Gropman, Ya-Ming Hou, May Christine V. Malicdan, William A. Gahl, Cynthia J. Tifft, Anthony Antonellis
Hum Mutat. Author manuscript; available in PMC 2018 Oct 1.
Published in final edited form as: Hum Mutat. 2017 Oct; 38(10): 1412–1420. Published online 2017 Jul 14. doi: 10.1002/humu.23287
PMCID:
PMC5599332
ArticlePDF–1.0M
18.
Dimerization is required for GARS-mediated neurotoxicity in dominant CMT disease
Nikos Malissovas, Laurie B. Griffin, Anthony Antonellis, Dimitris Beis
Hum Mol Genet. 2016 Apr 15; 25(8): 1528–1542. Published online 2016 Feb 7. doi: 10.1093/hmg/ddw031
PMCID:
PMC4805310
ArticlePDF–1.8M
19.
Dominant, toxic gain-of-function mutations in gars lead to non-cell autonomous neuropathology
Stuart J. Grice, James N. Sleigh, William W. Motley, Ji-Long Liu, Robert W. Burgess, Kevin Talbot, M. Zameel Cader
Hum Mol Genet. 2015 Aug 1; 24(15): 4397–4406. Published online 2015 May 13. doi: 10.1093/hmg/ddv176
PMCID:
PMC4492401
ArticlePDF–1.0M
20.
Impaired Function is a Common Feature of Neuropathy-Associated Glycyl-tRNA Synthetase Mutations
Laurie B. Griffin, Reiko Sakaguchi, David McGuigan, Michael A. Gonzalez, Charles Searby, Stephan Züchner, Ya-Ming Hou, Anthony Antonellis
Hum Mutat. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Hum Mutat. 2014 Nov; 35(11): 1363–1371. doi: 10.1002/humu.22681
PMCID:
PMC4213347
ArticlePDF–1.1M

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